Urea Cycle Disorders, Inborn [vrozené poruchy cyklu močoviny]

topical
7
Terms

cyklus močoviny - vrozené poruchy
vrozené poruchy malého Krebsova cyklu
vrozené poruchy močovinového cyklu
vrozené poruchy ornithinového cyklu
vrozené poruchy ureosyntetického cyklu

 

Inborn Urea Cycle Disorder
Urea Cycle Disorders

Persistent link   https://www.medvik.cz/link/D056806
Definition

Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.

DUI
D056806 MeSH Browser
CUI
M0529166
Previous indexing
Urea/metabolism (1977-2009)
History note
2010
Public note
2010

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications 1
DI
diagnosis 4
DG
diagnostic imaging
DH
diet therapy 1
DT
drug therapy 1
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology 1
GE
genetics 2
HI
history
IM
immunology
ME
metabolism 2
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery 1
TH
therapy 1
UR
urine
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 878
C10.228 Central Nervous System Diseases 808
C10.228.140 Brain Diseases 1 178
C10.228.140.163 Brain Diseases, Metabolic 84
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 26
C10.228.140.163.100.084 Adrenoleukodystrophy 41
C10.228.140.163.100.168 Cerebral Amyloid Angiopathy, Familial 1
C10.228.140.163.100.320 Galactosemias 44
C10.228.140.163.100.355 Hartnup Disease 2
C10.228.140.163.100.360 Hepatolenticular Degeneration 243
C10.228.140.163.100.362 Hereditary Central Nervous System Demyelinating Diseases 11
C10.228.140.163.100.365 Homocystinuria 107
C10.228.140.163.100.375 Hyperglycinemia, Nonketotic 7
C10.228.140.163.100.380 Hyperlysinemias
C10.228.140.163.100.412 Leigh Disease 26
C10.228.140.163.100.425 Lesch-Nyhan Syndrome 20
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System 13
C10.228.140.163.100.520 Maple Syrup Urine Disease 8
C10.228.140.163.100.535 MELAS Syndrome 17
C10.228.140.163.100.540 Menkes Kinky Hair Syndrome 12
C10.228.140.163.100.545 MERRF Syndrome 4
C10.228.140.163.100.593 Mevalonate Kinase Deficiency 16
C10.228.140.163.100.640 Oculocerebrorenal Syndrome 9
C10.228.140.163.100.687 Phenylketonurias 285
C10.228.140.163.100.725 Pyruvate Carboxylase Deficiency Disease
C10.228.140.163.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C10.228.140.163.100.813 Refsum Disease 6
C10.228.140.163.100.844 Refsum Disease, Infantile
C10.228.140.163.100.875 Tyrosinemias 18
C10.228.140.163.100.937 Urea Cycle Disorders, Inborn 7
C10.228.140.163.100.937.124 Argininosuccinic Aciduria 2
C10.228.140.163.100.937.249 Carbamoyl-Phosphate Synthase I Deficiency Disease 1
C10.228.140.163.100.937.374 Citrullinemia 2
C10.228.140.163.100.937.500 Hyperargininemia 2
C10.228.140.163.100.937.750 Ornithine Carbamoyltransferase Deficiency Disease 19
C10.228.140.163.100.968 Zellweger Syndrome 10
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.100 Amino Acid Metabolism, Inborn Errors 124
C16.320.565.100.102 Albinism 17
C16.320.565.100.187 Alkaptonuria 76
C16.320.565.100.477 Hyperglycinemia, Nonketotic 7
C16.320.565.100.480 Hyperhomocysteinemia 212
C16.320.565.100.544 Hyperlysinemias
C16.320.565.100.608 Maple Syrup Urine Disease 8
C16.320.565.100.614 Multiple Acyl Coenzyme A Dehydrogenase Deficiency 2
C16.320.565.100.620 Multiple Carboxylase Deficiency
C16.320.565.100.766 Phenylketonurias 285
C16.320.565.100.794 Prolidase Deficiency
C16.320.565.100.823 Propionic Acidemia 3
C16.320.565.100.880 Tyrosinemias 18
C16.320.565.100.940 Urea Cycle Disorders, Inborn 7
C16.320.565.100.940.124 Argininosuccinic Aciduria 2
C16.320.565.100.940.249 Carbamoyl-Phosphate Synthase I Deficiency Disease 1
C16.320.565.100.940.374 Citrullinemia 2
C16.320.565.100.940.500 Hyperargininemia 2
C16.320.565.100.940.750 Ornithine Carbamoyltransferase Deficiency Disease 19
C16.320.565.189 Brain Diseases, Metabolic, Inborn 26
C16.320.565.189.084 Adrenoleukodystrophy 41
C16.320.565.189.168 Cerebral Amyloid Angiopathy, Familial 1
C16.320.565.189.320 Galactosemias 44
C16.320.565.189.355 Hartnup Disease 2
C16.320.565.189.360 Hepatolenticular Degeneration 243
C16.320.565.189.362 Hereditary Central Nervous System Demyelinating Diseases 11
C16.320.565.189.365 Homocystinuria 107
C16.320.565.189.375 Hyperglycinemia, Nonketotic 7
C16.320.565.189.380 Hyperlysinemias
C16.320.565.189.412 Leigh Disease 26
C16.320.565.189.425 Lesch-Nyhan Syndrome 20
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System 13
C16.320.565.189.520 Maple Syrup Urine Disease 8
C16.320.565.189.535 MELAS Syndrome 17
C16.320.565.189.540 Menkes Kinky Hair Syndrome 12
C16.320.565.189.545 MERRF Syndrome 4
C16.320.565.189.593 Mevalonate Kinase Deficiency 16
C16.320.565.189.640 Oculocerebrorenal Syndrome 9
C16.320.565.189.687 Phenylketonurias 285
C16.320.565.189.725 Pyruvate Carboxylase Deficiency Disease
C16.320.565.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C16.320.565.189.813 Refsum Disease 6
C16.320.565.189.844 Refsum Disease, Infantile
C16.320.565.189.875 Tyrosinemias 18
C16.320.565.189.937 Urea Cycle Disorders, Inborn 7
C16.320.565.189.937.124 Argininosuccinic Aciduria 2
C16.320.565.189.937.249 Carbamoyl-Phosphate Synthase I Deficiency Disease 1
C16.320.565.189.937.374 Citrullinemia 2
C16.320.565.189.937.500 Hyperargininemia 2
C16.320.565.189.937.750 Ornithine Carbamoyltransferase Deficiency Disease 19
C16.320.565.189.968 Zellweger Syndrome 10
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 196
C18.452.132 Brain Diseases, Metabolic 84
C18.452.132.100 Brain Diseases, Metabolic, Inborn 26
C18.452.132.100.084 Adrenoleukodystrophy 41
C18.452.132.100.168 Cerebral Amyloid Angiopathy, Familial 1
C18.452.132.100.320 Galactosemias 44
C18.452.132.100.355 Hartnup Disease 2
C18.452.132.100.360 Hepatolenticular Degeneration 243
C18.452.132.100.362 Hereditary Central Nervous System Demyelinating Diseases 11
C18.452.132.100.365 Homocystinuria 107
C18.452.132.100.375 Hyperglycinemia, Nonketotic 7
C18.452.132.100.380 Hyperlysinemias
C18.452.132.100.412 Leigh Disease 26
C18.452.132.100.425 Lesch-Nyhan Syndrome 20
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.132.100.520 Maple Syrup Urine Disease 8
C18.452.132.100.535 MELAS Syndrome 17
C18.452.132.100.540 Menkes Kinky Hair Syndrome 12
C18.452.132.100.545 MERRF Syndrome 4
C18.452.132.100.593 Mevalonate Kinase Deficiency 16
C18.452.132.100.640 Oculocerebrorenal Syndrome 9
C18.452.132.100.687 Phenylketonurias 285
C18.452.132.100.725 Pyruvate Carboxylase Deficiency Disease
C18.452.132.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C18.452.132.100.813 Refsum Disease 6
C18.452.132.100.844 Refsum Disease, Infantile
C18.452.132.100.875 Tyrosinemias 18
C18.452.132.100.937 Urea Cycle Disorders, Inborn 7
C18.452.132.100.937.124 Argininosuccinic Aciduria 2
C18.452.132.100.937.249 Carbamoyl-Phosphate Synthase I Deficiency Disease 1
C18.452.132.100.937.374 Citrullinemia 2
C18.452.132.100.937.437 Hyperargininemia 2
C18.452.132.100.937.500 Ornithine Carbamoyltransferase Deficiency Disease 19
C18.452.132.100.968 Zellweger Syndrome 10
C18.452.648 Metabolism, Inborn Errors 711
C18.452.648.100 Amino Acid Metabolism, Inborn Errors 124
C18.452.648.100.102 Albinism 17
C18.452.648.100.187 Alkaptonuria 76
C18.452.648.100.477 Hyperglycinemia, Nonketotic 7
C18.452.648.100.480 Hyperhomocysteinemia 212
C18.452.648.100.544 Hyperlysinemias
C18.452.648.100.608 Maple Syrup Urine Disease 8
C18.452.648.100.614 Multiple Acyl Coenzyme A Dehydrogenase Deficiency 2
C18.452.648.100.620 Multiple Carboxylase Deficiency
C18.452.648.100.766 Phenylketonurias 285
C18.452.648.100.823 Propionic Acidemia 3
C18.452.648.100.880 Tyrosinemias 18
C18.452.648.100.940 Urea Cycle Disorders, Inborn 7
C18.452.648.100.940.124 Argininosuccinic Aciduria 2
C18.452.648.100.940.249 Carbamoyl-Phosphate Synthase I Deficiency Disease 1
C18.452.648.100.940.374 Citrullinemia 2
C18.452.648.100.940.437 Hyperargininemia 2
C18.452.648.100.940.500 Ornithine Carbamoyltransferase Deficiency Disease 19
C18.452.648.189 Brain Diseases, Metabolic, Inborn 26
C18.452.648.189.084 Adrenoleukodystrophy 41
C18.452.648.189.168 Cerebral Amyloid Angiopathy, Familial 1
C18.452.648.189.320 Galactosemias 44
C18.452.648.189.355 Hartnup Disease 2
C18.452.648.189.360 Hepatolenticular Degeneration 243
C18.452.648.189.362 Hereditary Central Nervous System Demyelinating Diseases 11
C18.452.648.189.365 Homocystinuria 107
C18.452.648.189.375 Hyperglycinemia, Nonketotic 7
C18.452.648.189.380 Hyperlysinemias
C18.452.648.189.412 Leigh Disease 26
C18.452.648.189.425 Lesch-Nyhan Syndrome 20
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.648.189.520 Maple Syrup Urine Disease 8
C18.452.648.189.535 MELAS Syndrome 17
C18.452.648.189.540 Menkes Kinky Hair Syndrome 12
C18.452.648.189.545 MERRF Syndrome 4
C18.452.648.189.593 Mevalonate Kinase Deficiency 16
C18.452.648.189.640 Oculocerebrorenal Syndrome 9
C18.452.648.189.687 Phenylketonurias 285
C18.452.648.189.725 Pyruvate Carboxylase Deficiency Disease
C18.452.648.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C18.452.648.189.813 Refsum Disease 6
C18.452.648.189.844 Refsum Disease, Infantile
C18.452.648.189.875 Tyrosinemias 18
C18.452.648.189.937 Urea Cycle Disorders, Inborn 7
C18.452.648.189.937.124 Argininosuccinic Aciduria 2
C18.452.648.189.937.249 Carbamoyl-Phosphate Synthase I Deficiency Disease 1
C18.452.648.189.937.374 Citrullinemia 2
C18.452.648.189.937.437 Hyperargininemia 2
C18.452.648.189.937.500 Ornithine Carbamoyltransferase Deficiency Disease 19
C18.452.648.189.968 Zellweger Syndrome 10

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